F4IHI1 · F4IHI1_ARATH
- ProteinSUMO-activating enzyme subunit
- GeneSAE2
- StatusUniProtKB unreviewed (TrEMBL)
- Amino acids628 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
ENSVATH05548754 | 3 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: 2:g.9198758A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9198758A>G Locations: - p.Thr3Ala (EnsemblPlants:AT2G21470.3) - c.7A>G (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9198774_C_T | 8 | S>F | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 2:g.9198774C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: Genomic location: 2:g.9198774C>T Locations: - p.Ser8Phe (EnsemblPlants:AT2G21470.3) - c.23C>T (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9198951_C_A | 38 | D>E | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: 2:g.9198951C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9198951C>A Locations: - p.Asp38Glu (EnsemblPlants:AT2G21470.3) - c.114C>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9199648_A_C | 81 | N>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: 2:g.9199648A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: 2:g.9199648A>C Locations: - p.Asn81Thr (EnsemblPlants:AT2G21470.3) - c.242A>C (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9199647_A_T | 81 | N>Y | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: 2:g.9199647A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: Genomic location: 2:g.9199647A>T Locations: - p.Asn81Tyr (EnsemblPlants:AT2G21470.3) - c.241A>T (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH05548774 | 195 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: 2:g.9200271G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200271G>A Locations: - p.Asp195Asn (EnsemblPlants:AT2G21470.3) - c.583G>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9200337_G_A | 217 | E>K | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: 2:g.9200337G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200337G>A Locations: - p.Glu217Lys (EnsemblPlants:AT2G21470.3) - c.649G>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH01858585 | 230 | Q>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: 2:g.9200377A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200377A>T Locations: - p.Gln230Leu (EnsemblPlants:AT2G21470.3) - c.689A>T (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9200403_G_T | 239 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: 2:g.9200403G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200403G>T Locations: - p.Val239Leu (EnsemblPlants:AT2G21470.3) - c.715G>T (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9200464_G_A | 259 | R>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 2:g.9200464G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200464G>A Locations: - p.Arg259Gln (EnsemblPlants:AT2G21470.3) - c.776G>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH14528187 | 263 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: 2:g.9200475A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200475A>G Locations: - p.Ile263Val (EnsemblPlants:AT2G21470.3) - c.787A>G (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9200496_C_A | 270 | P>T | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: 2:g.9200496C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200496C>A Locations: - p.Pro270Thr (EnsemblPlants:AT2G21470.3) - c.808C>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH00241425 | 290 | L>S | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: 2:g.9200557T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200557T>C Locations: - p.Leu290Ser (EnsemblPlants:AT2G21470.3) - c.869T>C (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9200556_T_G | 290 | L>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: 2:g.9200556T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200556T>G Locations: - p.Leu290Val (EnsemblPlants:AT2G21470.3) - c.868T>G (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH13315375 | 310 | T>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: 2:g.9200617C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200617C>T Locations: - p.Thr310Met (EnsemblPlants:AT2G21470.3) - c.929C>T (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9200631_G_T | 315 | V>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: 2:g.9200631G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200631G>T Locations: - p.Val315Leu (EnsemblPlants:AT2G21470.3) - c.943G>T (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9200646_T_A | 320 | L>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: 2:g.9200646T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200646T>A Locations: - p.Leu320Met (EnsemblPlants:AT2G21470.3) - c.958T>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH05548778 | 324 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: 2:g.9200660C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200660C>G Locations: - p.Phe324Leu (EnsemblPlants:AT2G21470.3) - c.972C>G (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH13315377 | 332 | V>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: 2:g.9200682G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200682G>A Locations: - p.Val332Met (EnsemblPlants:AT2G21470.3) - c.994G>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH05548780 | 365 | L>M | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: 2:g.9200863T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200863T>A Locations: - p.Leu365Met (EnsemblPlants:AT2G21470.3) - c.1093T>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9200986_G_A | 406 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: 2:g.9200986G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200986G>A Locations: - p.Asp406Asn (EnsemblPlants:AT2G21470.3) - c.1216G>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH05548781 | 408 | F>L | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: 2:g.9200994C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9200994C>A Locations: - p.Phe408Leu (EnsemblPlants:AT2G21470.3) - c.1224C>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9201134_G_T | 427 | E>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: 2:g.9201134G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201134G>T Locations: - p.Glu427Asp (EnsemblPlants:AT2G21470.3) - c.1281G>T (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9201289_G_A | 450 | R>Q | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: 2:g.9201289G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201289G>A Locations: - p.Arg450Gln (EnsemblPlants:AT2G21470.3) - c.1349G>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH01858593 | 460 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: 2:g.9201319A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201319A>G Locations: - p.Lys460Arg (EnsemblPlants:AT2G21470.3) - c.1379A>G (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9201405_G_A | 489 | D>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: 2:g.9201405G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201405G>A Locations: - p.Asp489Asn (EnsemblPlants:AT2G21470.3) - c.1465G>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH01858594 | 503 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: 2:g.9201531C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201531C>A Locations: - p.Leu503Ile (EnsemblPlants:AT2G21470.3) - c.1507C>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9201558_A_C | 512 | N>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: 2:g.9201558A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201558A>C Locations: - p.Asn512His (EnsemblPlants:AT2G21470.3) - c.1534A>C (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH00241428 | 560 | E>D | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: 2:g.9201929G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201929G>T Locations: - p.Glu560Asp (EnsemblPlants:AT2G21470.3) - c.1680G>T (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH01858602 | 562 | A>G | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.33) Somatic: No Accession: 2:g.9201934C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201934C>G Locations: - p.Ala562Gly (EnsemblPlants:AT2G21470.3) - c.1685C>G (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH05548802 | 574 | T>I | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: 2:g.9201970C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201970C>T Locations: - p.Thr574Ile (EnsemblPlants:AT2G21470.3) - c.1721C>T (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH05548803 | 577 | S>A | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.61) Somatic: No Accession: 2:g.9201978T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: Genomic location: 2:g.9201978T>G Locations: - p.Ser577Ala (EnsemblPlants:AT2G21470.3) - c.1729T>G (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH05548806 | 594 | A>P | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: 2:g.9202029G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: Genomic location: 2:g.9202029G>C Locations: - p.Ala594Pro (EnsemblPlants:AT2G21470.3) - c.1780G>C (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
ENSVATH05548807 | 595 | S>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: 2:g.9202033G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: Genomic location: 2:g.9202033G>A Locations: - p.Ser595Asn (EnsemblPlants:AT2G21470.3) - c.1784G>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: | |||||||
tmp_2_9202111_G_A | 621 | S>N | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: 2:g.9202111G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: Genomic location: 2:g.9202111G>A Locations: - p.Ser621Asn (EnsemblPlants:AT2G21470.3) - c.1862G>A (EnsemblPlants:AT2G21470.3) Source type: large scale study Cross-references: |